Search Results - "Figuera, Luis E"

Potential Modifying Effect of the APOEε4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer’s Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population by Valdez-Gaxiola, César A., Maciel-Cruz, Eric Jonathan, Hernández-Peña, Rubiceli, Dumois-Petersen, Sofía, Rosales-Leycegui, Frida, Gallegos-Arreola, Martha Patricia, Moreno-Ortiz, José Miguel, Figuera, Luis E.

“…In Alzheimer’s disease (AD), the age of onset (AoO) exhibits considerable variability, spanning from 40 to 90 years. Specifically, individuals diagnosed with…”
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Prediction of Regulatory SNPs in Putative Minor Genes of the Neuro-Cardiovascular Variant in Fabry Reveals Insights into Autophagy/Apoptosis and Fibrosis by Ruiz Ramírez, Andrea Virginia, Prado Montes de Oca, Ernesto, Figuera, Luis E

“…Even though a mutation in monogenic diseases leads to a “classic” manifestation, many disorders exhibit great clinical variability that could be due to…”
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The effect of years of schooling and age on CERAD‐MX performance in Mexican preclinical carriers of the APPV717I mutation: Randomized data simulation by Zuno‐Reyes, Angélica, Pérez‐Rubio, Karina, Flores‐González, Martín Alonso, Torres, Ricardo Jauregui, Dumois‐Petersen, Sofía, Figuera, Luis E., Ringman, John M., Matute, Esmeralda

“…INTRODUCTION We aimed to determine the effect of years of schooling (YoS) and age on the Mexican adaptation of the Consortium to Establish a Registry for…”
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SOD2 Gene Variants (rs4880 and rs5746136) and Their Association with Breast Cancer Risk by Gallegos-Arreola, Martha P, Ramírez-Patiño, Ramiro, Sánchez-López, Josefina Y, Zúñiga-González, Guillermo M, Figuera, Luis E, Delgado-Saucedo, Jorge I, Gómez-Meda, Belinda C, Rosales-Reynoso, Mónica A, Puebla-Pérez, Ana M, Lemus-Varela, María L, Garibaldi-Ríos, Asbiel F, Marín-Domínguez, Nayely A, Pacheco-Verduzco, Diana P, Mohamed-Flores, Emaan A

“…The superoxide dismutase (SOD) is the principal antioxidant defense system in the body that is activated by a reactive oxygen species. Some variants of the…”
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Early- and Late-Onset Alzheimer's Disease: Two Sides of the Same Coin? by Valdez-Gaxiola, César A, Rosales-Leycegui, Frida, Gaxiola-Rubio, Abigail, Moreno-Ortiz, José Miguel, Figuera, Luis E

“…Early-onset Alzheimer's disease (EOAD), defined as Alzheimer's disease onset before 65 years of age, has been significantly less studied than the "classic"…”
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Perceptions of Knowledge, Disease Impact and Predictive Genetic Testing in Family Members at Risk to Develop Early-Onset Alzheimer's Disease (EOAD) and Their Levels of Suicidal Ideation: A Mixed Study by Reyes-Domínguez, Yesica Arlae, Figuera, Luis E, Brambila-Tapia, Aniel Jessica Leticia

“…Early-onset Alzheimer's disease (EOAD) is an autosomal dominantly inherited disease, in which a founder effect has been described for A431E mutation in the…”
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Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature by Lidove, Olivier, West, Michael L., Pintos-Morell, Guillem, Reisin, Ricardo, Nicholls, Kathy, Figuera, Luis E., Parini, Rossella, Carvalho, Luiz R., Kampmann, Christoph, Pastores, Gregory M., Mehta, Atul

“…Enzyme replacement therapy with α-galactosidase A has been used to treat Fabry disease since 2001. This article reviews the published evidence for clinical…”
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ESR2 gene variants (rs1256049, rs4986938, and rs1256030) and their association with breast cancer risk by Gallegos-Arreola, Martha Patricia, Zúñiga-González, Guillermo M, Figuera, Luis E, Puebla-Pérez, Ana María, Márquez-Rosales, María Guadalupe, Gómez-Meda, Belinda Claudia, Rosales-Reynoso, Mónica Alejandra

“…Variants of the estrogen receptor b ( ) gene have been associated with different types of cancer. However, these associations have been inconsistent. We…”
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In Silico Identification of Dysregulated miRNAs Targeting KRAS Gene in Pancreatic Cancer by Garibaldi-Ríos, Asbiel Felipe, Figuera, Luis E, Zúñiga-González, Guillermo Moisés, Gómez-Meda, Belinda Claudia, García-Verdín, Patricia Montserrat, Carrillo-Dávila, Irving Alejandro, Gutiérrez-Hurtado, Itzae Adonai, Torres-Mendoza, Blanca Miriam, Gallegos-Arreola, Martha Patricia

“…Pancreatic cancer (PC) is highly lethal, with mutations in up to 95% of cases. miRNAs inversely correlate with expression, indicating potential as biomarkers…”
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X-Linked Congenital Hypertrichosis Syndrome Is Associated with Interchromosomal Insertions Mediated by a Human-Specific Palindrome near SOX3 by HONGWEN ZHU, DANDAN SHANG, YANG LIU, ZHANG, Xiao-Lin, FENGZHEN YUE, WANG, Ming-Rong, LI JIN, PATEL, Pragna I, TAO JING, XUE ZHANG, MIAO SUN, CHOI, Sunju, QING LIU, JIAJIE HAO, FIGUERA, Luis E, FENG ZHANG, KWONG WAI CHOY, YANG AO

“…X-linked congenital generalized hypertrichosis (CGH), an extremely rare condition characterized by universal overgrowth of terminal hair, was first mapped to…”
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Association of the rs1966265 and rs351855 FGFR4 Variants with Colorectal Cancer in a Mexican Population and Their Analysis In Silico by Carrillo-Dávila, Irving Alejandro, Garibaldi-Ríos, Asbiel Felipe, Figuera, Luis E, Gómez-Meda, Belinda Claudia, Zúñiga-González, Guillermo M, Puebla-Pérez, Ana María, García-Verdín, Patricia Montserrat, Castro-García, Paola Beatriz, Gutiérrez-Hurtado, Itzae Adonai, Torres-Mendoza, Blanca Miriam, Gallegos-Arreola, Martha Patricia

“…The aim of this study was to associate rs1966265 and rs351855 variants with colorectal cancer (CRC) in a Mexican population and to perform in silico analysis…”
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Mutation of SDHB is a Cause of Hypoxia-Related High-Altitude Paraganglioma by CERECER-GIL, Nidia Y, FIGUERA, Luis E, DE KRIJGER, Ronald R, DINJENS, Winand N. M, DEVILEE, Peter, BAYLEY, Jean Pierre, LLAMAS, Francisco J, LARA, Mauricio, ESCAMILLA, José G, RAMOS, Ruben, ESTRADA, Gerardo, HUSSAIN, A. Karim, GAAL, Jose, KORPERSHOEK, Esther

“…Paragangliomas of the head and neck are neuroendocrine tumors and are associated with germ line mutations of the tricarboxylic acid cycle-related genes SDHB,…”
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Association of rs712 polymorphism in a let-7 microRNA-binding site of KRAS gene with colorectal cancer in a Mexican population by Gallegos-Arreola, Martha Patricia, Zúñiga-González, Guillermo Moisés, Gómez-Mariscal, Karen, Rosales-Reynoso, Mónica Alejandra, Luis, Luis, Puebla-Pérez, Ana María, Pineda-Razo, Tomas

“…The rs712 polymorphism in a let-7 microRNA-binding site at gene has been associated with cancer. To examine its association with rs712 polymorphism, we…”
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Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14 ) by Minatogawa, Mari, Unzaki, Ai, Morisaki, Hiroko, Syx, Delfien, Sonoda, Tohru, Janecke, Andreas R, Slavotinek, Anne, Voermans, Nicol C, Lacassie, Yves, Mendoza-Londono, Roberto, Wierenga, Klaas J, Jayakar, Parul, Gahl, William A, Tifft, Cynthia J, Figuera, Luis E, Hilhorst-Hofstee, Yvonne, Maugeri, Alessandra, Ishikawa, Ken, Kobayashi, Tomoko, Aoki, Yoko, Ohura, Toshihiro, Kawame, Hiroshi, Kono, Michihiro, Mochida, Kosuke, Tokorodani, Chiho, Kikkawa, Kiyoshi, Morisaki, Takayuki, Kobayashi, Tetsuyuki, Nakane, Takaya, Kubo, Akiharu, Ranells, Judith D, Migita, Ohsuke, Sobey, Glenda, Kaur, Anupriya, Ishikawa, Masumi, Yamaguchi, Tomomi, Matsumoto, Naomichi, Malfait, Fransiska, Miyake, Noriko, Kosho, Tomoki

“…Musculocontractural Ehlers-Danlos syndrome is caused by biallelic loss-of-function variants in (mcEDS- ) or (mcEDS- ). Although 48 patients in 33 families with…”
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Association between the Xba I Polymorphism of APOB Gene and Plasma Lipid Level in Mexican Patients with Coronary Artery Disease by Gallegos-Arreola, Martha P, Valdez, Yadira, Zúñiga-Corona, Marco, Figuera, Luis E, Arnaud-López, Lisette, Robles-Cervantes, José A, González-Ortiz, Manuel, Martínez-Abundis, Esperanza, Puebla-Pérez, Ana M, Zúñiga-González, Guillermo M

“…Some studies, that consider polymorphisms of the apolipoprotein B (APOB) gene as risk factors for coronary artery disease (CAD), have reported discordant…”
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Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients by Dumois‐Petersen, Sofia, Gallegos‐Arreola, Martha P., Magaña‐Torres, María T., Perea‐Díaz, Francisco J., Ringman, John M., Figuera, Luis E.

“…Mutations in three genes (APP, PSEN1, and PSEN2) are the main cause of the autosomal dominant early‐onset Alzheimer's disease (AD‐EOAD). In PSEN1, the A431E…”
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The effect of years of schooling and age on CERAD-MX performance in Mexican preclinical carriers of the APP V717I mutation: Randomized data simulation by Zuno-Reyes, Angélica, Pérez-Rubio, Karina, Flores-González, Martín Alonso, Torres, Ricardo Jauregui, Dumois-Petersen, Sofía, Figuera, Luis E, Ringman, John M, Matute, Esmeralda

“…We aimed to determine the effect of years of schooling (YoS) and age on the Mexican adaptation of the Consortium to Establish a Registry for Alzheimer's…”
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Generalized hypertrichosis syndromes in Mexico by Aguayo‐Orozco, Thania Alejandra, Ríos‐González, Blanca Estela, Castro‐Martínez, Anna Gabriela, Ruiz‐Ramírez, Andrea Virginia, Figuera, Luis E.

“…Hypertrichosis is a rare condition characterized by excessive hair in areas of the body that are not predominantly androgen dependent. We can identify three…”
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First case reported of Turner syndrome and trisomy 14 chromosomal mosaicism in a patient by Becerra-Solano, Luis E., Arnaud-Lopez, Lisette, Diaz-Rodriguez, Manuel, Mantilla-Capacho, Johana M., Nastasi-Catanese, Jose A., Ortiz-Aranda, Martha, Vasquez, Ana I., Figuera, Luis E.

“…A 25-year-old woman with a mosaic 45,X/47XX,+14 karyotype is reported. She presented with short stature, short downward slanting palpebral fissures, broad…”
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Association of the Alu insertion polymorphism in the progesterone receptor gene with breast cancer in a Mexican population by Gallegos-Arreola, Martha Patricia, Figuera, Luis E, Flores-Ramos, Liliana Gómez, Puebla-Pérez, Ana María, Zúñiga-González, Guillermo Moisés

“…The progesterone receptor (PR) gene plays an important role in reproduction-related events. Data on polymorphisms in the PR gene have revealed associations…”
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